BRCA1 and USH2A

Number of citations: 93 (PubMedID 22990118)
Data Source: BioGRID (two hybrid)

		BRCA1	USH2A
Name		BRCA1 DNA repair associated	usherin
Structure			No pdb structure
GO Annotations	Cellular Component	Ubiquitin Ligase Complex Nuclear Ubiquitin Ligase Complex Condensed Chromosome Condensed Nuclear Chromosome Lateral Element Gamma-tubulin Ring Complex Male Germ Cell Nucleus XY Body Nucleus Nucleoplasm Chromosome Cytoplasm Plasma Membrane Nuclear Body BRCA1-BARD1 Complex Protein-containing Complex BRCA1-A Complex BRCA1-B Complex BRCA1-C Complex DNA Repair Complex Ribonucleoprotein Complex	Photoreceptor Inner Segment Stereocilia Ankle Link Stereocilia Ankle Link Complex Extracellular Region Basement Membrane Cytoplasm Plasma Membrane Membrane Apical Plasma Membrane Photoreceptor Connecting Cilium Stereocilium Bundle Ciliary Basal Body Cell Projection Neuronal Cell Body Terminal Bouton Stereocilium Membrane Periciliary Membrane Compartment USH2 Complex
	Molecular Function	Transcription Cis-regulatory Region Binding P53 Binding DNA Binding Damaged DNA Binding Transcription Coactivator Activity RNA Binding Ubiquitin-protein Transferase Activity Protein Binding Zinc Ion Binding Tubulin Binding Transferase Activity Enzyme Binding Ubiquitin Protein Ligase Binding Identical Protein Binding Metal Ion Binding Ubiquitin Protein Ligase Activity Ubiquitin-modified Histone Reader Activity RNA Polymerase Binding Histone H2AK127 Ubiquitin Ligase Activity Histone H2AK129 Ubiquitin Ligase Activity	Protein Binding Collagen Binding Myosin Binding Identical Protein Binding
	Biological Process	Double-strand Break Repair Via Homologous Recombination DNA Repair Regulation Of DNA Repair Postreplication Repair Double-strand Break Repair DNA Recombination Chromatin Remodeling Regulation Of Transcription By RNA Polymerase II Lipid Metabolic Process Fatty Acid Metabolic Process Fatty Acid Biosynthetic Process DNA Damage Response Chromosome Segregation Mitotic G2 DNA Damage Checkpoint Signaling Centrosome Cycle Sex-chromosome Dosage Compensation Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage Response To Ionizing Radiation Positive Regulation Of Vascular Endothelial Growth Factor Production Positive Regulation Of Gene Expression Protein Ubiquitination Negative Regulation Of Cell Growth Negative Regulation Of Intracellular Estrogen Receptor Signaling Pathway Homologous Recombination Chordate Embryonic Development Negative Regulation Of Gene Expression Via Chromosomal CpG Island Methylation Mitotic G2/M Transition Checkpoint Negative Regulation Of Fatty Acid Biosynthetic Process Positive Regulation Of DNA Repair Positive Regulation Of Angiogenesis Negative Regulation Of Cell Cycle Negative Regulation Of DNA-templated Transcription Positive Regulation Of DNA-templated Transcription Positive Regulation Of Transcription By RNA Polymerase II Negative Regulation Of Centriole Replication Regulation Of Cell Cycle Protein Autoubiquitination Random Inactivation Of X Chromosome Cellular Response To Tumor Necrosis Factor Cellular Response To Ionizing Radiation Cellular Response To Indole-3-methanol Protein K6-linked Ubiquitination DNA Strand Resection Involved In Replication Fork Processing Negative Regulation Of Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors Regulation Of DNA Damage Checkpoint Negative Regulation Of Reactive Oxygen Species Metabolic Process	Visual Perception Sensory Perception Of Sound Hair Cell Differentiation Inner Ear Auditory Receptor Cell Differentiation Establishment Of Protein Localization Photoreceptor Cell Maintenance Maintenance Of Animal Organ Identity Animal Organ Development Sensory Perception Of Light Stimulus Establishment Of Localization In Cell Inner Ear Receptor Cell Differentiation
Pathways		Meiotic synapsis SUMOylation of DNA damage response and repair proteins HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Metalloprotease DUBs Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Resolution of D-loop Structures through Holliday Junction Intermediates Nonhomologous End-Joining (NHEJ) Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange TP53 Regulates Transcription of DNA Repair Genes Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Neddylation Transcriptional Regulation by E2F6 Meiotic recombination Defective DNA double strand break response due to BRCA1 loss of function Defective DNA double strand break response due to BARD1 loss of function Defective homologous recombination repair (HRR) due to BRCA1 loss of function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Impaired BRCA2 binding to RAD51 Impaired BRCA2 binding to PALB2 KEAP1-NFE2L2 pathway Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence	None
Diseases		Ovarian cancer Breast cancer	Usher syndrome (US) Retinitis pigmentosa (RP)
GWAS		Aspartate aminotransferase levels ( 33547301 ) Gynecologic disease (multivariate analysis) ( 31488892 ) Menopause (age at onset) ( 26414677 29773799 ) Monocyte percentage of white cells ( 32888494 ) Ovarian cancer ( 31488892 ) Ovarian cancer (MTAG) ( 31488892 )	Birth weight ( 31043758 ) Cholesterol ( 31902109 ) Chronic mucus hypersecretion ( 25234806 ) Femur bone mineral density x serum urate levels interaction ( 34046847 ) Gut microbiota (bacterial taxa, hurdle binary method) ( 32572223 ) Prepulse inhibition of the startle response ( 31596458 )
Interacting Genes		323 interacting genes: ABL1 ABRAXAS1 ACACA ACTG1 ACTN3 AKT1 ALDH1A1 ANKRD28 ANTXR1 AP1M1 APLP2 AR ARNT ASH2L ATF1 ATM ATP1B1 ATP1B3 ATR ATRIP AURKA AURKC BABAM1 BAP1 BARD1 BRAP BRAT1 BRCA2 BRCC3 BRIP1 BRSK1 CABYR CASP3 CATSPERT CAVIN3 CBX1 CBX5 CCDC120 CCNA1 CCNA2 CCNB1 CCND1 CDC25C CDK1 CDK2 CDK4 CDK7 CDKN2D CEP57L1 CHEK1 CHEK2 CLSPN CNRIP1 CNTLN CNTN4 COL1A1 COMMD1 CREBBP CRY2 CRYZL1 CSNK1D CSNK2A1 CSNK2B CSTF1 CTBP1 CTCFL CTNNB1 CUBN CWF19L2 DALRD3 DBF4 DCLRE1C DCN DDX24 DES DHPS DHX9 DNAJA1 DNAJA3 DNAJB1 DNHD1 DYNC1H1 DYNLT2B E2F1 E2F4 EED EIF3B EIF4A2 EIF5B ELK1 ELK4 ELOA ENO1 EP300 ERCC5 ERO1B ESR1 ETS1 ETV5 EZH2 FAM161A FAM184A FANCA FANCD2 FBXO44 FHL2 FLI1 FLNA FXR2 GCC1 GFI1B GGN GOLGA8DP GTF3C4 GUSBP1 H2AC20 H2AC4 H2AX H2BC3 H3C1 HDAC1 HDAC2 HECTD3 HGF HIBADH HIVEP1 HNRNPC HNRNPD HORMAD1 HSPA14 HSPA8 HSPD1 IFI16 INPP1 ITIH5 ITPR1 ITPRID2 JAK1 JAK2 JUN JUNB JUND JUP KAT5 KDM1A KIF1B KPNA2 KPNA6 LARP7 LCK LCMT1 LDHC LMNTD1 LMO4 LONRF1 MACROH2A1 MAN2C1 MAP3K1 MAP3K14 MAP3K3 MAP4K4 MARCKSL1 MDC1 MED1 MED21 MID2 MLH1 MNAT1 MSH2 MSH3 MSH6 MT-ND1 MYC MYOZ1 NBN NCOA2 NCOA3 NELFB NFKB1 NFYA NKAPL NMI NPC2 NRIP1 NSD2 NUFIP1 NUP153 OBSCN PARG PEG3 PEX5 PGR PHF12 PIAS1 PIAS4 PIK3R1 PILRB PIN1 PISD POLB POLR2A POLR2H POLR2K POM121 POMGNT1 POU2F1 PPP1CA PPP1CB PPP1R13B PPP2R5C PREP PRKAG3 PRKDC PRMT1 PRPF3 PSAP PSMA6 PSMA7 PSMD9 PSMG1 RACK1 RAD51 RANBP9 RB1 RBBP4 RBBP7 RBBP8 RBL1 RBL2 RCC1L RELA RFC1 RNF216 RPGRIP1 RPL31 RTKN2 RTL10 RUNX1T1 RWDD2B RWDD4 SDK2 SETX SKP2 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMC1A SNRNP200 SNX3 SNX6 SOX30 SP1 SPATA4 SQSTM1 SSX2IP STAC2 STAT1 STAT3 STAT5A SUMO1 SYT6 TARS1 TATDN2 TCEA2 TCEANC TEX101 THOC3 TLE4 TMPRSS12 TNS2 TOP1 TOP2A TOP2B TP53 TP53BP1 TPTE2 TRIM24 TRIM46 TRIM47 TRIM74 TRRAP TSEN54 TSGA10IP TUBA4A TUBB TUBG1 TULP2 TXLNA UBB UBC UBE2D1 UBE2D2 UBE2D3 UBE2E1 UBE2E2 UBE2E3 UBE2J1 UBE2K UBE2L3 UBE2N UBE2T UBE2W UBE3A UBXN1 USF2 USH2A USP2 VCP VHL WDR6 WNT2B WRN XAF1 XIAP XRCC1 XRCC5 YY1 ZNF280D ZNF350 ZNF423 ZSCAN21	3 interacting genes: BRCA1 COL4A3 KRT18
Entrez ID		672	7399
HPRD ID		00218	09759
Ensembl ID		ENSG00000012048	ENSG00000042781
Uniprot IDs		A0A0U1RRA9 A0A2R8Y7V5 A0A9Y1QPR4 A0A9Y1QPT7 A0A9Y1QPY6 A0A9Y1QQ47 A0A9Y1QQD3 A0A9Y1QQF1 A0A9Y1QQJ6 A0A9Y1QQK3 A0A9Y1QQK7 A0A9Y1VR53 A0A9Y1VVD0 A0A9Y1VVE2 B4DES0 C9IZW4 E7ENB7 E7EQW4 E7EUM2 H0Y850 H0Y8D8 P38398	O75445
PDB IDs		1JM7 1JNX 1N5O 1OQA 1T15 1T29 1T2U 1T2V 1Y98 2ING 3COJ 3K0H 3K0K 3K15 3K16 3PXA 3PXB 3PXC 3PXD 3PXE 4IFI 4IGK 4JLU 4OFB 4U4A 4Y18 4Y2G 6G2I 7JZV 7LYB 8GRQ	Not available
GO Terms Enriched among Interactors		Nucleoplasm Nucleus DNA Damage Response Nucleic Acid Metabolic Process Regulation Of Nucleobase-containing Compound Metabolic Process DNA Metabolic Process Cellular Response To Stress Regulation Of Macromolecule Metabolic Process Macromolecule Metabolic Process Regulation Of Primary Metabolic Process DNA Repair Positive Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Metabolic Process Positive Regulation Of Macromolecule Metabolic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of RNA Biosynthetic Process Nucleobase-containing Compound Metabolic Process Regulation Of DNA-templated Transcription Negative Regulation Of Macromolecule Metabolic Process Positive Regulation Of Metabolic Process Regulation Of RNA Metabolic Process Regulation Of Macromolecule Biosynthetic Process Regulation Of Gene Expression Negative Regulation Of Metabolic Process Double-strand Break Repair Positive Regulation Of RNA Biosynthetic Process Regulation Of Transcription By RNA Polymerase II Regulation Of DNA Metabolic Process Positive Regulation Of DNA-templated Transcription Regulation Of Cell Cycle Phase Transition Positive Regulation Of RNA Metabolic Process Negative Regulation Of Macromolecule Biosynthetic Process Regulation Of Cell Cycle Negative Regulation Of RNA Metabolic Process Negative Regulation Of Biosynthetic Process Chromatin Binding Negative Regulation Of DNA-templated Transcription Negative Regulation Of RNA Biosynthetic Process Negative Regulation Of Cell Cycle Phase Transition Response To Ionizing Radiation Response To Radiation Positive Regulation Of Transcription By RNA Polymerase II DNA Damage Checkpoint Signaling Signal Transduction In Response To DNA Damage Positive Regulation Of DNA Metabolic Process Enzyme Binding Negative Regulation Of Transcription By RNA Polymerase II Regulation Of Cellular Response To Stress Chromatin Organization Chromosome, Telomeric Region	None